FOXK1[gene] and "single gene"[properties] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2349625	NM_001037165.2(FOXK1):c.127C>T (p.Pro43Ser)	FOXK1 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279609	NM_001037165.2(FOXK1):c.155C>T (p.Pro52Leu)	FOXK1 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776196	NM_001037165.2(FOXK1):c.202G>A (p.Ala68Thr)	FOXK1 (A68T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2616997	NM_001037165.2(FOXK1):c.320C>T (p.Ala107Val)	FOXK1 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096453	NM_001037165.2(FOXK1):c.425G>A (p.Ser142Asn)	FOXK1 (S142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351303	NM_001037165.2(FOXK1):c.430A>G (p.Ile144Val)	FOXK1 (I144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303835	NM_001037165.2(FOXK1):c.482G>A (p.Arg161His)	FOXK1 (R161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374738	NM_001037165.2(FOXK1):c.625G>A (p.Glu209Lys)	FOXK1 (E209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494121	NM_001037165.2(FOXK1):c.626A>G (p.Glu209Gly)	FOXK1 (E209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096454	NM_001037165.2(FOXK1):c.647G>A (p.Arg216Gln)	FOXK1 (R216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271197	NM_001037165.2(FOXK1):c.689C>T (p.Pro230Leu)	FOXK1 (P230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223414	NM_001037165.2(FOXK1):c.704G>A (p.Arg235Gln)	FOXK1 (R235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096455	NM_001037165.2(FOXK1):c.711G>A (p.Met237Ile)	FOXK1 (M237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096456	NM_001037165.2(FOXK1):c.859G>A (p.Ala287Thr)	FOXK1 (A287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657257	NM_001037165.2(FOXK1):c.930C>T (p.Tyr310=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096457	NM_001037165.2(FOXK1):c.961G>A (p.Ala321Thr)	FOXK1 (A321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346301	NM_001037165.2(FOXK1):c.1000C>T (p.His334Tyr)	FOXK1 (H334Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750543	NM_001037165.2(FOXK1):c.1035C>T (p.Ala345=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3096446	NM_001037165.2(FOXK1):c.1036G>A (p.Asp346Asn)	FOXK1 (D346N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369011	NM_001037165.2(FOXK1):c.1160C>G (p.Ala387Gly)	FOXK1 (A387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389369	NM_001037165.2(FOXK1):c.1168G>A (p.Val390Met)	FOXK1 (V390M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776197	NM_001037165.2(FOXK1):c.1293C>T (p.Ser431=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3096447	NM_001037165.2(FOXK1):c.1421T>G (p.Val474Gly)	FOXK1 (V474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234417	NM_001037165.2(FOXK1):c.1435G>A (p.Val479Met)	FOXK1 (V479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096449	NM_001037165.2(FOXK1):c.1478A>G (p.Lys493Arg)	FOXK1 (K493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303334	NM_001037165.2(FOXK1):c.1604C>G (p.Ala535Gly)	FOXK1 (A535G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370951	NM_001037165.2(FOXK1):c.1624A>C (p.Ser542Arg)	FOXK1 (S542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096450	NM_001037165.2(FOXK1):c.1637C>T (p.Ala546Val)	FOXK1 (A546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289846	NM_001037165.2(FOXK1):c.1639G>A (p.Gly547Arg)	FOXK1 (G547R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256067	NM_001037165.2(FOXK1):c.1642G>T (p.Gly548Cys)	FOXK1 (G548C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351018	NM_001037165.2(FOXK1):c.1669G>A (p.Val557Met)	FOXK1 (V557M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742980	NM_001037165.2(FOXK1):c.1968C>T (p.Ser656=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2356645	NM_001037165.2(FOXK1):c.1969G>A (p.Ala657Thr)	FOXK1 (A657T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376295	NM_001037165.2(FOXK1):c.1970C>T (p.Ala657Val)	FOXK1 (A657V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657258	NM_001037165.2(FOXK1):c.2080G>A (p.Ala694Thr)	FOXK1 (A694T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773475	NM_001037165.2(FOXK1):c.2172C>T (p.Ala724=)	FOXK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346071	NM_001037165.2(FOXK1):c.2173G>A (p.Gly725Ser)	FOXK1 (G725S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263309	NM_001037165.2(FOXK1):c.2194G>C (p.Gly732Arg)	FOXK1 (G732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980815	GRCh37/hg19 7p22.2-22.1(chr7:4482581-4738635)x3	FOXK1	Copy number gain	not provided	GUncertain significance
Select item 394924	GRCh37/hg19 7p22.1(chr7:4725191-4802265)x1	FOXK1	Copy number loss	See cases	GUncertain significance

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Items: 40